Milestones of Lynch syndrome: 1895–2015
HT Lynch, CL Snyder, TG Shaw, CD Heinen… - Nature Reviews …, 2015 - nature.com
Lynch syndrome, which is now recognized as the most common hereditary colorectal cancer
condition, is characterized by the predisposition to a spectrum of cancers, primarily …
condition, is characterized by the predisposition to a spectrum of cancers, primarily …
Building the foundation for genomics in precision medicine
SJ Aronson, HL Rehm - Nature, 2015 - nature.com
Precision medicine has the potential to profoundly improve the practice of medicine.
However, the advances required will take time to implement. Genetics is already being used …
However, the advances required will take time to implement. Genetics is already being used …
[HTML][HTML] Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework
Abstract Purpose We evaluated the American College of Medical Genetics and
Genomics/Association for Molecular Pathology (ACMG/AMP) variant pathogenicity …
Genomics/Association for Molecular Pathology (ACMG/AMP) variant pathogenicity …
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics …
Abstract Disclaimer: These ACMG Standards and Guidelines were developed primarily as
an educational resource for clinical laboratory geneticists to help them provide quality …
an educational resource for clinical laboratory geneticists to help them provide quality …
Prevalence and penetrance of major genes and polygenes for colorectal cancer
Background: Although high-risk mutations in identified major susceptibility genes (DNA
mismatch repair genes and MUTYH) account for some familial aggregation of colorectal …
mismatch repair genes and MUTYH) account for some familial aggregation of colorectal …
[HTML][HTML] Performance of ACMG-AMP variant-interpretation guidelines among nine laboratories in the clinical sequencing exploratory research consortium
Evaluating the pathogenicity of a variant is challenging given the plethora of types of genetic
evidence that laboratories consider. Deciding how to weigh each type of evidence is difficult …
evidence that laboratories consider. Deciding how to weigh each type of evidence is difficult …
Variant interpretation: functional assays to the rescue
Classical genetic approaches for interpreting variants, such as case-control or co-
segregation studies, require finding many individuals with each variant. Because the …
segregation studies, require finding many individuals with each variant. Because the …
ClinGen—the clinical genome resource
HL Rehm, JS Berg, LD Brooks… - … England Journal of …, 2015 - Mass Medical Soc
ClinGen — The Clinical Genome Resource | New England Journal of Medicine Skip to main
content The New England Journal of Medicine homepage Advanced Search SEARCH …
content The New England Journal of Medicine homepage Advanced Search SEARCH …
Translating cancer genomics into precision medicine with artificial intelligence: applications, challenges and future perspectives
J Xu, P Yang, S Xue, B Sharma, M Sanchez-Martin… - Human genetics, 2019 - Springer
In the field of cancer genomics, the broad availability of genetic information offered by next-
generation sequencing technologies and rapid growth in biomedical publication has led to …
generation sequencing technologies and rapid growth in biomedical publication has led to …
The challenge of genetic variants of uncertain clinical significance: a narrative review
Genomic tests expand diagnostic and screening opportunities but also identify genetic
variants of uncertain clinical significance (VUSs). Only a minority of VUSs are likely to prove …
variants of uncertain clinical significance (VUSs). Only a minority of VUSs are likely to prove …